Discussion In this study, we present eight new patients from five families with X-linked ID type Nascimento. [link.springer.com]

We report a unique mutation in the renin receptor gene (ATP6AP2) present in patients with X-linked mental retardation and epilepsy (OMIM no. 300423), but absent in 1200 control X-chromosomes. [scholars.opb.msu.edu]

Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed: 24607389 }. [web.expasy.org]

• Short Stature

  […] rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome, Verma-Naumoff type Short stature, Brussels type Short stature-auditory canal [se-atlas.de]

  Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. J. Med. Genet. 2008; 45(12):787-93. doi: 10.1136/jmg.2008.058990. PMID: 18697827 Fink, JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15. [invitae.com]

  stature 60 Very frequent (99-80%) 7 cleft palate 60 Occasional (29-5%) 8 protruding ear 60 Occasional (29-5%) 9 prominent nasal bridge 60 Occasional (29-5%) 10 non-midline cleft lip 60 Occasional (29-5%) 11 decreased testicular size 60 Very frequent [malacards.org]

  stature, microcephaly, small testes. [factpub.org]

  DD Behavioral abnormalities (stereotypic, self-injuri Support Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. [autism.mindspec.org]

• Developmental Delay

  […] membranous cranial ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency Developmental delay-deafness syndrome, Hildebrand type Diaphanospondylodysostosis [se-atlas.de]

  Here we report two novel IQSEC2 de novo truncating mutations identified through diagnostic exome sequencing in two severely affected unrelated male probands manifesting developmental delay, seizures, hypotonia, plagiocephaly, and abnormal MRI findings [springermedizin.de]

  ID Support A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay. ID Support Large-scale discovery of novel genetic causes of developmental disorders. [autism.mindspec.org]

  Background Global developmental delay and intellectual disability (ID, IQ 1, 2 ]. [link.springer.com]

• Camping

  […] protein Neurofibromatosis type I · Watson syndrome · Tuberous sclerosis Guanine nucleotide exchange factor Marinesco–Sjögren syndrome · Aarskog–Scott syndrome · Juvenile primary lateral sclerosis · X-Linked mental retardation 1 G protein Heterotrimeic cAMP [wiki30.com]

  Australia: Wanneroo, Samford Valley, Mount Gravatt East, Altona North, Caroline Springs, Bulleen, Kensington, Gladesville, Menai, Bondi Beach, Wellington Point, Mount Lawley, Annerley, Tewantin, Box Hill North, Sunshine North, Yokine, Batemans Bay, Camp [maria-online.com]

  Months later, in December 2005, he and other members of the Toronto 18 attended a terrorist training camp, held in Washago, Ont. The bomb plot began to take form in March 2006. [mihaibulacu.wordpress.com]

• Failure to Thrive

  […] to thrive-microcephaly due to ASXL3 deficiency syndrome Severe intellectual disability and progressive spastic paraplegia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-progressive postnatal [se-atlas.de]

  […] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital pterygium Osteoporosis-pseudoglioma syndrome Hypomelanosis of Ito Porokeratosis [checkrare.com]

• Nausea

  The mother suffered from nausea and vomiting during the whole pregnancy and had a seasonal flu in the second trimester. The patient was the second twin and was born at term by vaginal dystocic delivery. [link.springer.com]

• Vomiting

  The mother suffered from nausea and vomiting during the whole pregnancy and had a seasonal flu in the second trimester. The patient was the second twin and was born at term by vaginal dystocic delivery. [link.springer.com]

• Quickening

  Genet. 73, 188190.012Fragile X and X-Linked Intellectual Disability: Four Decades of DiscoveryIntroductionXLID before Fragile XThe Setting of the Initial Observation of the Marker XObservations in the 1970s and 1980sMethodologies Quicken the Pace of Gene [documents.tips]

• Hearing Impairment

  impairment 60 Frequent (79-30%) 5 microcephaly 60 Very frequent (99-80%) 6 short stature 60 Very frequent (99-80%) 7 cleft palate 60 Occasional (29-5%) 8 protruding ear 60 Occasional (29-5%) 9 prominent nasal bridge 60 Occasional (29-5%) 10 non-midline [malacards.org]

  He has no hearing impairment and has not exhibited seizures, regression or autistic behaviour. [link.springer.com]

  […] anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency [se-atlas.de]

• Behavior Disorder

  […] feature X-linked creatine transporter deficiency X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant intellectual disability-epilepsy syndrome X-linked epilepsy-learning disabilities-behavior [se-atlas.de]

• Tremor

  XLID-Choreoathetosis ; XLID-Choroideremia-Ectodermal Dysplasia ; XLID-Cleft Lip/Cleft Palate ; XLID-Epilepsy (XIDE) ; XLID-Hydrocephaly-Basal Ganglia Calcifications (see also AP1S2-Associated XLID) ; XLID-Hypogammaglobulinemia ; XLID-Hypogonadism-Tremor [amazon.de]

  […] syndrome Focal dermal hypoplasia Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Focal, segmental or multifocal dystonia Folinic acid-responsive seizures Fountain syndrome Fowler syndrome Fragile X syndrome Fragile X-associated tremor [se-atlas.de]

  PubMed View Article Google Scholar Cabezas DA, Slaugh R, Abidi F, Arena JF, Stevenson RE, Schwartz CE, Lubs HA: A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25. [ojrd.biomedcentral.com]

  XLID-optic atrophy (AGTR2)XLID-short stature-muscle wasting (NXF5)Epilepsy-intellectual disability limited to females (PCDH19)Martin-Probst (RAB40AL)Wilson-Turner (LAS1L)XLID-hypogonadism-tremor (CUL4B)Brjeson-Forssman-Lehmann (PHF6)XLID-nail dystrophy-seizures [documents.tips]

• Insomnia

  […] seizures Familial or sporadic hemiplegic migraine Familial paroxysmal ataxia Familial partial epilepsy Familial porencephaly Familial recurrent peripheral facial palsy Familial syringomyelia Familial temporal lobe epilepsy Farber disease Fatal familial insomnia [se-atlas.de]

• Asthenia

  Martinez spastic paraplegia syndromes and nonsyndromal XLMR) hypotonia, in some cases hemoglobin H inclusions in erythrocytes Christianson syndrome Short stature, microcephaly, long narrow face, large ears, long straight nose, prominent mandible, general asthenia [factpub.org]

X-linked intellectual disability (Medical Condition) Symptoms, risk factors and treatments of X-linked intellectual disability (Medical Condition) X-linked intellectual disability refers to forms of intellectual disability ... [wikinow.co]

"We hope that by learning more about genes such as USP9X, we will create new opportunities to understand brain disorders at a much deeper level than currently known, which could lead to future treatment opportunities." [sciencedaily.com]

They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. [web.expasy.org]

Most importantly for the patients, some of the gene discoveries have pointed to potential strategies for treatment. [factpub.org]

Moog U (2005) The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes. American Journal of Medical Genetics Part A 137: 228–231. [els.net]

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

Further Reading Chelly J, Khelfaoui M, Francis F, Cherif B and Bienvenu T (2006) Genetics and pathophysiology of mental retardation. European Journal of Human Genetics 14: 701–713. [els.net]

Genetics and pathophysiology of mental retardation. European Journal of Human Genetics, 14 (6), 701–713. PubMed CrossRef Gitiaux, C., Bergounioux, J., Magen, M., Quijano-Roy, S., Blanc, T., Bonnefont, J. P., et al. (2013). [springermedizin.de]

Genetics and pathophysiology of mental retarda-tion. Eur. J. Hum. Genet. 14, 701713.19. Ropers, H.H., and Hamel, B.C. (2005). X-linked mentalretardation. Nat. Rev. Genet. 6, 4657.20. Kleefstra, T., and Hamel, B.C. (2006). [documents.tips]

At the same time, it has improvedthe clinical diagnosis of XLID and allowed for carrier detectionand prevention strategies through gamete donation, prenataldiagnosis, and genetic counseling. [documents.tips]